Using shorter Illumina reads

Many people have asked if they can use their existing Illumina datasets with DISCOVAR – datasets that don’t meet the recommendations of ~60x coverage by 250 base paired reads from a ~700 bp PCR-free fragment library. We investigated and made some minor changes to the algorithm, embodied in release 46382 onwards, and it is now possible to use shorter reads from PCR libraries – with some caveats. We have successfully tested DISCOVAR on 100 base reads from a ~180 bp PCR fragment library, obtaining reasonable results but inferior to those generated from the recommended data. For more information on please see our FAQ.

DISCOVAR has been released!

We are pleased to announce that DISCOVAR is now available to download .

DISCOVAR is a variant caller and genome assembler from the Broad Institute. It uses the latest low cost sequencing data, and can generate highly accurate variant calls for individual humans, or assemble small genomes de novo (with support for large genomes to follow). We expect it will be particularly valuable for understanding human Mendelian disease, but equally suited to investigating the biology of other organisms.

Find out more about DISCOVAR, and please check out the FAQ and help too.